ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.842G>A (p.Arg281His)

dbSNP: rs782143078
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724826 SCV000232750 uncertain significance not provided 2015-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000180337 SCV000517448 likely benign not specified 2016-12-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV000724826 SCV001150470 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000724826 SCV002382195 benign not provided 2023-02-09 criteria provided, single submitter clinical testing

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